Pax3 - paired box 3 Gene

种属: Mus musculus

同用名: Sp; Pax-3; Splchl2; splotch

关于 Pax3

功能概要

Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin binding activity; and transcription coregulator binding activity. Acts upstream of or within several processes, including animal organ development; nervous system development; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; embryo mesenchyme; nose; and urinary system. Used to study Waardenburg syndrome type 1; alveolar rhabdomyosarcoma; and neural tube defect. Human ortholog(s) of this gene implicated in Waardenburg syndrome type 1; Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3). [provided by Alliance of Genome Resources, Apr 2022]